Associated Papers
Clinical and genotypic analysis in determining dystonia non-motor phenotypic heterogeneity: a UK Biobank study.
Wadon ME et al.
Journal of Neurology, 2022
35925398 (PubMed )
Supplement: 415_2022_11307_MOESM4_ESM.xlsx › Sheet1
Dystonia 16 (DYT16) mutations in PACT cause dysregulated PKR activation and eIF2α signaling leading to a compromised stress response.
Burnett SB et al.
Neurobiology of Disease, 2020
A truncated PACT protein resulting from a frameshift mutation reported in movement disorder DYT16 triggers caspase activation and apoptosis.
Burnett SB et al.
Journal of Cellular Biochemistry, 2019
Altered activation of protein kinase PKR and enhanced apoptosis in dystonia cells carrying a mutation in PKR activator protein PACT.
Vaughn LS et al.
The Journal of Biological Chemistry, 2015
DYT16 revisited: exome sequencing identifies PRKRA mutations in a European dystonia family.
Zech M et al.
Movement Disorders : Official Journal of the Movement Disorder Society, 2014
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